Sunday, March 28, 2010

Addy continues to do well medically. She seems to be completely back to herself. Tomorrow we venture back to Children's Hospital for the spinal MRI. It will be done under sedation and the procedure is expected to take about an hour and a half. After the MRI, she will receive a skeletal survey. Then next week, we follow up with the neurologist.

In preparation for the new baby, we did away with our guest room and turned it into Addy's new big girl room. She absolutely loves everything about it. It came together much better than I had imagined. She loves sleeping in her big girl bed and has been a nice space to start accumulating some of her toys in order to make room to get all the baby equipment out again.

Sunday, March 21, 2010

Man....I am willing this month to be over with! It has been long, grueling and full of unexpected surprises filled with a tremendous amount of up and down emotions. Last week we had an appointment with genetics as well as Addy's MRI of the brain. I left the genetics appt. feeling very overwhelmed, nervous and full of emotion. Originally when I had made the appt. several of months ago, I thought that Dr. Bawle would see us and then say that we didn't have to return unless we felt it necessary. However, between then and now so much happened that I certainly didn't get that response. Dr. Bawle seemed very concerned about the seizure and change in speech. I of course asked the questions like, "what's the worst possible scenario we are looking at?" You don't even want to know the answer she gave me. So stupid of me for asking because now it's all I can think about. She had promised me that she would call after Addy's MRI which was the following day.

So Thursday, down to Children's Hospital we went, bright and early for the first appt. of the morning. Everyone was so nice. Once again they were unable to get an IV started (thankfully they only tried once, unlike Beaumont who tried about 8 times!) so they had to take her up to anesthesia where they put her under before starting the IV. Much easier! The MRI went well and Addy recovered quickly from the sedation.

The worst part was the anticipation of waiting for the results the next morning. I called the pediatrician as well to have them get the results, just in case genetics forgot to call me. I knew I couldn't go all weekend without knowing. So, after willing the phone to ring all day, I finally called genetics about 2:00. They immediately called me back and the news came across as somber. She said the MRI showed changes in the white matter of her brain on both sides. Okay, so what does that mean. Then she went on to say that at this age the brain is changing so much and myelination is rapidly occurring, so at this point it's difficult for us to tell anything until she has a follow up done in 6 months to compare it to. However, throughout the entire conversation she didn't sound extremely positive. Although she did mention that the report stated that the white matter was consistent for her age. Okay, so now what do I think?

Again, I willed the phone to ring as I waited for the pediatrician to call. By this time I had cried enough tears to fill a bathtub thinking the worst thoughts possible. The phone rang and I told her that I never wanted to talk to Addy's pediatrician so bad in my whole life. She seemed a little puzzled as to why I was so upset. I told her I had already spoken with the genetic doctor and I was scared. She read me the whole report over the phone and said that when she read it, she didn't draw any red flags. It clearly stated that the white matter was consistent with the patient's age and if clinical concerns remained, we could follow up in six months with another MRI. So, I felt much better after talking to her. I am still waiting to see the neurologist on April 7th and get his opinion. Hopefully I can leave that appt. feeling much better.

In happier news, Addy seems completely back to herself other than the speech. It has changed so much over the last several weeks that it is still very puzzling. This weekend we headed to Tyler and Ethan's pool party for their 2nd and 4th birthdays and Addy had a blast. Here are some pics to prove that she is feeling much better and seems to be back to her happy go lucky self. She also has a new big girl bedroom which she has been very excited about. I will post those pics soon.

Sunday, March 14, 2010

Well Addy seems to be on the up and up from our scary experience 2 weeks ago. We are awaiting an MRI of her brain this Thursday. She will have to be sedated for it because it requires lying still for 45 minutes. Hoping that it might bring about some answers, but at the same time praying for it to be normal. After another conversation with her pediatrician, she mentioned that it was possible that Addy had an undetected infection that could have swelled her brain, particularly in the speech processing area. The swelling could have been enough to bring on the seizure and the speech issues, while the infection could have been the cause for the fever, thirstiness, tiredness, etc. It definitely makes sense, but we may never know.

The odd part about the speech is that by last Friday, the stuttering had all but ceased. I might have heard it slightly here and there, but nothing real noticeable. Each day that went by since the last time we ended up in the hospital, we noticed it seemed to get better. That is puzzling. But, the infection and swelling of the brain scenario would make sense. Until today.....the stuttering is back! We just can't seem to figure this out.

And the medical mystery continues.............

This week I took Addison to see a new doctor. I had this appointment scheduled since last year. Dr. Dabrowski (Physical Medicine and Rehabilitation doc) was a doctor that I had wanted to see since Addy was born and we were seeking out some answers. However, he's a very difficult doctor to get in to and at the time I was impatient, wanted answers and didn't want to wait to get it to see him. So, we took a different route. Now, after almost three years, I decided it was time and I was going to wait as long as I needed to.

The thing about Dr. Dabrowski is that not only is he an awsome doctor, but he loves mystery cases and he will do whatever it takes to find the answers. Many of the students in my classroom have seen him over the years and he has helped to diagnose many of them, even some of the most difficult cases.

I left the appointment just kicking myself for not seeing him sooner. I have always had this nagging feeling ever sense Addy was diagnosed with Arthrogryposis, that maybe, just maybe it wasn't the right diagnosis and how will we ever know? Dr. Dabrowski is very intrigued with Addy and is going to work hard to seek out right answer.

At this point, he is not saying that she doesn't have Arthrogryposis as she does have many features that are Arthrogrypodic looking, but he feels like there could be more. At first glance he feels that whatever she has is a syndrome or condition driven by the central nervous system or spinal driven. He was a little baffled that numerous tests such as a spinal MRI or a full look at her body had never been done. He was thrilled that we will be seeing neurology in early April, because he feels like neurology might be the key player in figuring out what is going on. Some of the syndromes he is looking at are: osteogenesis imperfecta, sprengels syndrome, skeletal dysplagia, congenital anomaly, developmental delay, hypotonia. Several of these terms are very broad, but he listed everything that he felt could end up being a term to describe what is going on.

So, our next step is a full spinal MRI at the end of the month as well as a skeletal survey. The spinal MRI will take an hour and a half and so is was not possible to have it done on the same day as the brain MRI as they don't like to keep kids sedated for that long. The skeletal survey will be done this Thursday following the MRI of the brain. We will then follow up with neurology in April and we will see Dr. Dabrowski back in June.

I am excited about this, but also nervous at the same time. Excited that we might discover some more answers, but scared about what exactly those answers might be. And again I kick myself for waiting so long. I am hoping and praying that this baby growing inside of me will not carry on any of what these answers might possibly be. Since many of them very well could be genetic.

Speaking of genetic, we have a visit with genetics this week and Dr. Dabrowski was going to talk with our geneticist ahead of time about some of these syndromes for another opinion when we go. Lots going on lately and my head is spinning just trying to remember and keep it all straight.

Also in the meantime, Dr. Dabrowski would like Addy to be fitted for a DMO (dynamic movement orthosis). This will be a very tight fitting suit that can be snugged up in the areas in which Addy needs the most support. Mainly for her it will be in her shoulder and trunk area. This suit will be worn under her clothes. It is very new and currently is being made in England and Dr. Dabrowski is working very closely with those who invented it. The only downfall is that it makes you sweat a lot. Addy has always been a sweater since the day she was born, so we will see how this goes with summer on the way.

Aside from everything else that has been going on, Addy got her new orthopedic stroller this week. She has just about outgrown the toddler stroller she has and we knew that she was going to need something long term for distances. I also needed a stroller that I could transport the walker on so when we go places, Addy will have both means of mobility. The stroller has tie downs as well should she ever need it on the bus when she goes off to school next year. She was very excited about it and so far on our one excursion out to the mall it seemed to work well. Here are some pics. I will continue to keep everyone updated as we get answers.

Monday, March 8, 2010

After Addy's initial seizure and hospital stay we have had some more developments.

We were discharged from the hospital on Wednesday with orders to receive a 24 hour EEG in 3 weeks. There was talk of an MRI at this point, but the suggestion was to wait until she turned 3 years old. The reason behind this was because usually by 3 years of age the myelin has completely formed around the nerves and would allow us to see if everything there has developed correctly. She had an MRI done at 4 months of age which was normal and will allow us to have a baseline to go on.

The next morning (Thursday), Addy awoke with another fever. This time it was only 100 degrees, but took me off guard since she didn't have a fever the entire time we were in the hospital. I immediately called the pediatrician and took her in for another look. Again, nothing was found. Her fever stayed 100 degrees all day which was good. The other oddity was that she had now acquired a stutter to her speech. Before all of this happened, she did mumble at times while she was processing what she wanted to say, however this was a true stutter. I tried to chalk it up to being developmental.

Friday, Addy awoke with no fever, still a stutter, but had a pretty good day. On Saturday, we had a family birthday party to attend. I was anxious to go and see what Addy's demeanor would be like back out in the environment away from the cooped up house. Addy had a good time, but Aaron and I both could tell she wasn't 100% herself, however it was difficult to put our finger on just what was wrong. We also noticed the stutter seemed to be getting worse. By the time we arrived home from the party, Addy's stutter was so bad she could hardly talk to us. Aaron and I both had pits in our stomachs that something just wasn't right. I immediately called the on-call pediatrician. Thankfully it was my own doc. Her advice was to take her back to Children's hospital.

So Saturday night we ended up back in the ER at Children's. The ER doc didn't seem too concerned as the situation did not seem life threatening to him. He didn't feel it was stroke like since it was a stutter rather than a slurring of words. He didn't want to put her through the unnecessary radiation of another CAT scan because he said the CAT scan from Tuesday would have shown us if their were a tumor or brain bleed. He consulted the on call neurologist who was concerned, but felt the best bet was to undergo a MRI. Problem was, if we were admitted to the hospital, the first time slot for an MRI wasn't until this upcoming Friday. So, they sent us home with a script for an outpatient MRI.

Sunday Addy woke up much more like herself. Her personality was back, however the stutter remained, just not as bad as we saw on Saturday. This made us feel much better. She had a good day and went back to daycare on Monday.

Today we went to an ENT appt. I really wanted her to be checked out to make sure that her throat was healed up from the surgery she had at the end of January. I thought that maybe the lack of appetite, changes in speech, thirstiness could all possibly be related to that. He scoped her and said she was healed fine. That was good news, but again still leaves us with many questions and no answers.

She will be having an MRI on March 18th which she will have to be sedated for. We then have an appt. to see neurology in April. In between then and now we will also be having the 24 hour EEG which has not yet been scheduled. We are hoping and praying for good results from all tests. I will also be consulting a speech therapist from early intervention about the stutter. Please keep Addy in your thoughts and prayers.

Thursday, March 4, 2010

The world that I once knew completely changed this week. I picked Addison up from daycare on Monday and was told that she was very tired all day. Got her home and noticed a 104 degree fever. Took her to the last doc appt of the day where she still had 103.8 fever even with medication. The doctor was unable to find any source of infection after running a strep test and checking her urine. She sent me away and told me to keep an eye on her.

Tuesday I stayed home with her and she woke up with a 100.8 fever. I gave her some Motrin and continued to monitor her the rest of the morning. Every temp reading from that point out was 96, 97 and 98. Normal right? As we sat down to eat lunch, Addy turned extremely pale, keeled over and began not breathing. I scooped her up, thinking that at first she had just fainted, until I realized that she wasn't breathing. I panicked!!! Laid her on the floor and noticed the stiffening of her entire body, her inability to breath and turning blue. The world I once knew in this instant completely changed. As I tried to calm myself to start CPR and grab the phone, the thoughts that ran through my head were terrifying. Because this had never happened before I didn't initially realize that it had been a seizure until she came out of it. The thoughts in my head were "Addison, I can't lose you like this!" Absolutely terrifying. As I dialed 911, she began to get start catching her breath. By the time I was done giving my address and description, she was starting to become coherent and responded to me. At that point, I realized what had just happened- a seizure. The whole episode lasted about a minute and a half to 2 mintues with about 30 seconds of not breathing.

My job has prepared me for moments like this- or so I thought. I have seen many seizures occur in my own students at school. I have witnessed them, dealt with them calmly and have been able to follow medical protocol that I have for those students with seizures. Never before has a seizure shaken me to this extent. It becomes so completely different when it's your own child. Everything you once knew goes out the window and you feel totally helpless.

As the firemen and paramedics arrived, Addy laid in my arms, but was very responsive. She did not fall asleep initially as many do after a seizure. We were transported to Troy Beaumont, because my initial request to be transferred to Children's Hospital couldn't happen until we had been seen by a local hospital. On arrival to Beaumont, Addy received a CAT scan, a spinal tap, blood work and urine work-up. Meningitis was ruled out and all test results came back normal. During this time, she also had 2 other very small episodes that are difficult to tell whether or not they were seizures. One was witnessed by a nurse in which Addy entire body tensed up and she turned blue once again, but the whole episode was extremely short and she came out of it just as fast as she went into it. The next episode was even smaller with no change in color. At this point, opinions from health professionals did not feel as though the seizure was fever related. We were then transferred to Children's for further testing and observation.

On arrival at Children's we were put in a room on the observation floor, admitted overnight and awaited an EEG in the morning with a neurology consult. Every thing else from this point forward remained normal- temperature and blood pressure. The EEG came back normal, however neurology's opinion was that of everyone else's in which the seizure did not sound fever related. I order to have a febrile seizure you have to have a quick spike or decline of temperature in the body over a short period of time. This didn't seem to be the case with Addy. At that point we were sent on our way and are now awaiting a 24 hour EEG in 3 weeks.

Everything within me feels like this is fever related. It's just that gut instinct you have as a mother. The fact that she was sick with something that we think is viral and this occurred during that time just makes me feel as if there was a correlation rather than it being an underlying seizure disorder. Now that worst part about the whole thing is that we are forced to wait and see if it happens again.

I have been off work all week and plan to stay home with her the remainder of the week. After two days at the hospital with no fever, she woke up with a 100.3 this morning. Erghhhh! Back to the pediatrician we went and again nothing abnormal was found. She is definitely fighting a viral infection of some sort, or so we think.

So what now??? During that 2 minute episode on Tuesday, life changed. I watch and question her every move. She doesn't leave my side other than maybe the next room in the house. We slept in the same bed last night and for nap today. How do you leave her alone in a room to sleep when all you have is a monitor to rely on? It might be different had she not lost consciousness during the whole episode, and I am so fearful of that happening again.

The feelings then turn to those of guilt. Guilt because I know that she has to return to daycare on Monday and I will feel absolutely horrible if this happens and I am not there. I so badly wish I could afford to stay home with her, but that isn't a choice. Going to school next year will be easier for me because she will be in a program with personnel who are trained to deal with these situations should they arise. Daycare, however, does not typically deal with kids who have seizures. They are all CPR trained, which I am fortunate for, but it's just different when you know they have dealt with and witnessed seizures before. Tomorrow I will be going in to get a health care plan and protocol in place should this event occur again.

All I ever wanted and all I ever do want is to be a mother to Addison. I now again feel like I have to be so much more. A teacher, a healthcare provider, a therapist. I remember not enjoying her as an infant in the way a mother should. I spent my time worrying, watching, diagnosing and being a therapist. I now feel back at this point. I have to watch and worry and wait every second of every day rather than just enjoying who she is.

This blog has been a great way for me to keep a history of things that happen with her and it helps when I need to go back and refer to times when things happened. I also enjoy the ability that it allows for friends and family to keep updated on her progress. Here are a few pics from our hospital experience. I want to thank everyone for their thoughts and prayers over the last several days.

I'm the wife to a great guy and a mother to a child with special needs. Follow our journey through life and the daily happenings of two daughters: Addison Christine, our oldest, who has a diagnosis of Arthrogryposis Multiplex Congenita, Klippel Feil Syndrome and a Seizure Disorder and Breslyn Anna, our youngest, just recently born into our family.